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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 15-60531773-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=60531773&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 60531773,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000335670.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.275G>C",
"hgvs_p": "p.Gly92Ala",
"transcript": "NM_134261.3",
"protein_id": "NP_599023.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 523,
"cds_start": 275,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 10827,
"mane_select": "ENST00000335670.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.275G>C",
"hgvs_p": "p.Gly92Ala",
"transcript": "ENST00000335670.11",
"protein_id": "ENSP00000335087.6",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 523,
"cds_start": 275,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 10827,
"mane_select": "NM_134261.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Gly125Ala",
"transcript": "ENST00000261523.9",
"protein_id": "ENSP00000261523.5",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 556,
"cds_start": 374,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 1951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.350G>C",
"hgvs_p": "p.Gly117Ala",
"transcript": "ENST00000309157.8",
"protein_id": "ENSP00000309753.3",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 548,
"cds_start": 350,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.110G>C",
"hgvs_p": "p.Gly37Ala",
"transcript": "ENST00000449337.6",
"protein_id": "ENSP00000402971.2",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 468,
"cds_start": 110,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 1701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "n.210G>C",
"hgvs_p": null,
"transcript": "ENST00000558234.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.374G>C",
"hgvs_p": "p.Gly125Ala",
"transcript": "NM_134260.3",
"protein_id": "NP_599022.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 556,
"cds_start": 374,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 10998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.350G>C",
"hgvs_p": "p.Gly117Ala",
"transcript": "NM_002943.4",
"protein_id": "NP_002934.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 548,
"cds_start": 350,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 10974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.110G>C",
"hgvs_p": "p.Gly37Ala",
"transcript": "NM_134262.3",
"protein_id": "NP_599024.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 468,
"cds_start": 110,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 10687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.281G>C",
"hgvs_p": "p.Gly94Ala",
"transcript": "ENST00000559343.1",
"protein_id": "ENSP00000453322.1",
"transcript_support_level": 4,
"aa_start": 94,
"aa_end": null,
"aa_length": 152,
"cds_start": 281,
"cds_end": null,
"cds_length": 460,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.281G>C",
"hgvs_p": "p.Gly94Ala",
"transcript": "XM_011521874.2",
"protein_id": "XP_011520176.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 525,
"cds_start": 281,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 10839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.218G>C",
"hgvs_p": "p.Gly73Ala",
"transcript": "XM_011521875.3",
"protein_id": "XP_011520177.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 504,
"cds_start": 218,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 442,
"cdna_end": null,
"cdna_length": 10910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.107G>C",
"hgvs_p": "p.Gly36Ala",
"transcript": "XM_011521877.4",
"protein_id": "XP_011520179.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 467,
"cds_start": 107,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 11982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "n.*84G>C",
"hgvs_p": null,
"transcript": "ENST00000551975.5",
"protein_id": "ENSP00000449482.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "n.300G>C",
"hgvs_p": null,
"transcript": "ENST00000557822.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "n.230G>C",
"hgvs_p": null,
"transcript": "ENST00000560004.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.-137G>C",
"hgvs_p": null,
"transcript": "XM_047432928.1",
"protein_id": "XP_047288884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": -4,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.-137G>C",
"hgvs_p": null,
"transcript": "XM_047432929.1",
"protein_id": "XP_047288885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": -4,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "c.-137G>C",
"hgvs_p": null,
"transcript": "XM_047432930.1",
"protein_id": "XP_047288886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": -4,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RORA",
"gene_hgnc_id": 10258,
"hgvs_c": "n.*84G>C",
"hgvs_p": null,
"transcript": "ENST00000551975.5",
"protein_id": "ENSP00000449482.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RORA-AS1",
"gene_hgnc_id": 51410,
"hgvs_c": "n.893+3046C>G",
"hgvs_p": null,
"transcript": "ENST00000501579.7",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RORA-AS1",
"gene_hgnc_id": 51410,
"hgvs_c": "n.318+21240C>G",
"hgvs_p": null,
"transcript": "ENST00000558235.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RORA-AS1",
"gene_hgnc_id": 51410,
"hgvs_c": "n.235+11478C>G",
"hgvs_p": null,
"transcript": "ENST00000559203.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
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"computational_prediction_selected": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_by_gene": [
{
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"verdict": "Likely_pathogenic",
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{
"score": 6,
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"verdict": "Likely_pathogenic",
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Intellectual developmental disorder with or without epilepsy or cerebellar ataxia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}